ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658671929
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468749
ClinVar RCV Id:
RCV000535229
RCV001764577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068831.1:p.Pro710Ser
CA8565002
NM_021991.4:c.2128C>T